Illumina Genomics Research

Illumina Research and Innovation

At Illumina, innovation and research align with a commitment to scientific access, data, and community. These values underpin our leadership in genomic research and clinical applications.

Our scientists help drive progress in how we aggregate, analyze, and interpret genomic data for meaningful insights. Illumina research fuels innovative ways to study, diagnose, and treat disease. Explore some of our latest efforts here.

Recent Discoveries by Illumina Scientists

Genotyping of High Homology HBA1 and HBA2 from Illumina Whole-Genome Sequencing

α-thalassemia is caused by mutations in high homology HBA1 and HBA2 genes (~97%). We present here a new WGS-based DRAGEN HBA caller that can accurately detect deletional and non-deletional variants in the HBA locus.

Boosting variant calling performance using a high-quality reference panel for imputing low-coverage sequencing data

DRAGEN v4.0 implementation of the GLIMPSE imputation tool accelerates analysis speeds and dramatically improves variant calling performance for low-coverage data. Imputation accuracy is further enhanced by using a large, genetically diverse reference panel.

A rapid whole-genome sequencing pipeline optimized for speed, reproducibility, and scalability

Learn how Illumina scientists reengineered a rapid whole-genome sequencing workflow to detect causative genetic variants, including structural variation, with high accuracy in 13.5 hours.

Find open-source software, access developer resources, or explore our entire informatics portfolio.

New to data analysis? Visit our NGS data analysis page.

Open-Source Bioinformatics Tools

Explore a broad range of free open-source software provided and maintained by Illumina.

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Developer Portal

Start with powerful Illumina software, then use the APIs to customize your workflow from sample to insight.

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Informatics Portfolio

Our comprehensive software tools offer rapid, accurate secondary analysis, flexible and secure data storage, scalable infrastructure, and more.

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Metagenomics, COVID-19, & Emerging Pathogens

Robert Schlaberg and Lauge Farnaes from IdByDNA discuss use of metagenomics to identify emerging pathogens.

Genomic Tumor Profiling and Precision Oncology

Dr. Rachel Sanborn of the Providence Cancer Institute explains how genomics technologies are empowering precision oncology.

Join the best and brightest in the biotech industry. Collaborate with industry leaders, contribute to cutting-edge research, and ignite your passion for innovation.

Whether you're interested in basic genomics research, bioinformatics, engineering, or clinical product development, join us and make a difference. View our career profile videos to learn more about what it’s like to work at Illumina, or search current job openings.

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Bioinformatics Scientist

Bioengineer Career Profile

Find out what Erin Fang works on, who she works with, and what motivated her to pursue bioengineering.

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Bioinformatician Career Profile

Find out how Daniel Brami spends his average day, and where he sees bioinformatics going in five years.

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Genomics News

How Comprehensive Genomic Profiling Is Helping Cancer Patients Today
How Comprehensive Genomic Profiling Is Helping Cancer Patients Today

At ESMO 2022 in Paris, oncologists discussed real-world cases and big-picture challenges

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Using Analytics to Improve Cancer Diagnosis and Therapy Selection
Using Analytics to Improve Cancer Diagnosis and Therapy Selection

Developing and automating best-practice workflows that make analyzing, processing, and disseminating genomic data accessible to researchers and clinicians.

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Illumina Grant Boosts Climate Action and Job Training
Illumina Grant Boosts Climate Action and Job Training

US nonprofit GRID Alternatives launches new projects to provide renewable energy

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